rs77571059

Variant names:

• chr7-128937860-CGCGGGGCGGG-C
• rs77571059
• NM_001347928.2:c.-12+603_-12+612delGGGGCGGGGC

Your query was ambiguous. Multiple possible variants found:

• chr7-128937860-CGCGGGGCGGG-C
• chr7-128937860-CGCGGGGCGGG-CGCGGG
• chr7-128937860-CGCGGGGCGGG-CGCGGGGCGGGGCGGG
• chr7-128937860-CGCGGGGCGGG-CGCGGGGCGGGGCGGGGCGGG
• chr7-128937860-CGCGGGGCGGG-CGCGGGGCGGGGCGGGGCGGGGCGGG

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_001347928.2(IRF5):​c.-12+603_-12+612delGGGGCGGGGC variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: IRF5 NM_001347928.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.624

Genes affected

IRF5 (HGNC:6120): (interferon regulatory factor 5) This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Dec 2016]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
IRF5	NM_001347928.2	c.-12+603_-12+612delGGGGCGGGGC		intron_variant	Intron 1 of 8		NP_001334857.1
IRF5	XM_011516160.2	c.-12+34_-12+43delGGGGCGGGGC		intron_variant	Intron 1 of 8		XP_011514462.1
IRF5	XM_047420338.1	c.-12+34_-12+43delGGGGCGGGGC		intron_variant	Intron 1 of 8		XP_047276294.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
IRF5	ENST00000489702.6	c.-12+27_-12+36delGCGGGGCGGG		intron_variant	Intron 1 of 8	5		ENSP00000418037.2
IRF5	ENST00000652525.1	c.-12+167_-12+176delGCGGGGCGGG		intron_variant	Intron 1 of 1			ENSP00000498293.1
IRF5	ENST00000700148.1	n.52+27_52+36delGCGGGGCGGG		intron_variant	Intron 1 of 7

Frequencies

GnomAD3 genomes Cov.: 0

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs77571059; hg19: chr7-128577914;